Total 18 pathogenic variants reported for Duane retraction syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe)	SNV Germline	Chr2:174944942	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258034	rs_121912792	1 SubmittersRCV000019105
NM_001822.7(CHN1):c.378T>G (p.Ile126Met)	SNV Germline	Chr2:174878011	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258035	rs_121912793	1 SubmittersRCV000019106
NM_001822.7(CHN1):c.427T>C (p.Tyr143His)	SNV Germline	Chr2:174877962	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258036	rs_121912794	1 SubmittersRCV000019107
NM_001822.7(CHN1):c.668C>T (p.Ala223Val)	SNV Germline	Chr2:174824478	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258037	rs_121912795	1 SubmittersRCV000019108
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser)	SNV Germline	Chr2:174824464	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258038	rs_121912796	1 SubmittersRCV000019109
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln)	SNV Germline	Chr2:174812440	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258039	rs_121912797	1 SubmittersRCV000019110
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys)	SNV Germline	Chr2:174811538	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA258040	rs_121912798	1 SubmittersRCV000019111
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu)	SNV Germline	Chr2:174877967	Pathogenic	Duane retraction syndrome 2	No Assertion Criteria Provided	CA259606	rs_387906599	1 SubmittersRCV000022463
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)	SNV Germline	Chr2:174824485	Likely pathogenic	Duane retraction syndrome 2 Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV000677620 RCV001281600
NM_001822.7(CHN1):c.588C>T (p.Asn196=)	SNV Germline	Chr2:174846919	Conflicting classifications of pathogenicity	Condition: not provided Duane retraction syndrome 2	Criteria Provided Conflicting Classifications		rs_146313212	2 SubmittersRCV000880423 RCV001136369
NM_001822.7(CHN1):c.435C>T (p.His145=)	SNV Germline	Chr2:174877954	Conflicting classifications of pathogenicity	Condition: not provided Duane retraction syndrome 2	Criteria Provided Conflicting Classifications		rs_527929031	2 SubmittersRCV000895698 RCV001136371
NM_001822.7(CHN1):c.237A>G (p.Pro79=)	SNV Germline	Chr2:174915081	Conflicting classifications of pathogenicity	Condition: not provided Duane retraction syndrome 2	Criteria Provided Conflicting Classifications		rs_377261893	2 SubmittersRCV000899257 RCV001136373
NM_005461.5(MAFB):c.393C>A (p.His131Gln)	SNV Germline	Chr20:40688458	Conflicting classifications of pathogenicity	Multicentric carpo-tarsal osteolysis with or without nephropathy Condition: not provided MAFB-related disorder Duane retraction syndrome 3 with or without deafness Multicentric carpo-tarsal osteolysis with or without nephropathy	Criteria Provided Conflicting Classifications		rs_121912307	4 SubmittersRCV001136925 RCV001856748 RCV003433021 RCV002491409
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)	SNV Germline	Chr20:40688557	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases MAFB-related disorder Duane retraction syndrome 3 with or without deafness Multicentric carpo-tarsal osteolysis with or without nephropathy	Criteria Provided Conflicting Classifications		rs_374174345	4 SubmittersRCV002103788 RCV003015298 RCV003951051 RCV002499959